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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-71125324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=71125324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 71125324,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000647725.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "NM_001349338.3",
"protein_id": "NP_001336267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "ENST00000649528.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "ENST00000649528.3",
"protein_id": "ENSP00000497369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7177,
"mane_select": "NM_001349338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "ENST00000318789.11",
"protein_id": "ENSP00000318902.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.-154+6767G>A",
"hgvs_p": null,
"transcript": "ENST00000475937.6",
"protein_id": "ENSP00000419393.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.-154+5174G>A",
"hgvs_p": null,
"transcript": "ENST00000497355.7",
"protein_id": "ENSP00000418225.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "NM_001244810.2",
"protein_id": "NP_001231739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
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"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "ENST00000648426.1",
"protein_id": "ENSP00000498110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "NM_001244814.3",
"protein_id": "NP_001231743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6808,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 5,
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"gene_symbol": "FOXP1",
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"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "NM_001244816.2",
"protein_id": "NP_001231745.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 5,
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"gene_symbol": "FOXP1",
"gene_hgnc_id": 3823,
"hgvs_c": "c.181-12687G>A",
"hgvs_p": null,
"transcript": "NM_001349340.3",
"protein_id": "NP_001336269.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "FOXP1",
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"transcript": "NM_032682.6",
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},
{
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],
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"gene_symbol": "FOXP1",
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"hgvs_c": "c.181-12687G>A",
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"transcript": "ENST00000498215.7",
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},
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],
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"gene_symbol": "FOXP1",
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"hgvs_c": "c.181-12687G>A",
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],
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},
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],
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"gene_symbol": "FOXP1",
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"hgvs_c": "c.181-12687G>A",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "FOXP1",
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"hgvs_c": "c.181-12687G>A",
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"transcript": "NM_001349341.3",
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],
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},
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"consequences": [
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],
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"gene_symbol": "FOXP1",
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},
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"consequences": [
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],
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"gene_symbol": "FOXP1",
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"hgvs_c": "c.181-12687G>A",
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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{
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],
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"clinvar_review_status": "",
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}
],
"message": null
}